Canonical Allele Identifier: CA6988977
Community Standard Title: NM_000053.4(ATP7B):c.2558A>G (p.Asp853Gly)
Gene: ATP7B HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.51950289T>C , CM000675.2:g.51950289T>C GRCh38
NC_000013.10:g.52524425T>C , CM000675.1:g.52524425T>C GRCh37
NC_000013.9:g.51422426T>C NCBI36
NG_008806.1:g.66206A>G

Transcript Alleles

HGVS Amino-acid Change
NM_000053.4:c.2558A>G MANE Select NP_000044.2:p.Asp853Gly
ENST00000242839.10:c.2558A>G MANE Select ENSP00000242839.5:p.Asp853Gly
NM_000053.3:c.2558A>G NP_000044.2:p.Asp853Gly
NM_001005918.2:c.2072A>G NP_001005918.1:p.Asp691Gly
NM_001005918.3:c.2072A>G NP_001005918.1:p.Asp691Gly
NM_001243182.1:c.2225A>G NP_001230111.1:p.Asp742Gly
NM_001243182.2:c.2225A>G NP_001230111.1:p.Asp742Gly
NM_001330578.1:c.2324A>G NP_001317507.1:p.Asp775Gly
NM_001330578.2:c.2324A>G NP_001317507.1:p.Asp775Gly
NM_001330579.1:c.2306A>G NP_001317508.1:p.Asp769Gly
NM_001330579.2:c.2306A>G NP_001317508.1:p.Asp769Gly
ENST00000242839.8:c.2558A>G ENSP00000242839.4:p.Asp853Gly
ENST00000344297.8:c.2072A>G ENSP00000342559.5:p.Asp691Gly
ENST00000344297.9:c.2072A>G ENSP00000342559.5:p.Asp691Gly
ENST00000400366.5:c.2225A>G ENSP00000383217.3:p.Asp742Gly
ENST00000400366.6:c.2225A>G ENSP00000383217.3:p.Asp742Gly
ENST00000400370.8:c.1286-128A>G ENSP00000383221.3:n.1286-128A>G
ENST00000418097.7:c.2558A>G ENSP00000393343.2:p.Asp853Gly
ENST00000448424.6:c.2324A>G ENSP00000416738.2:p.Asp775Gly
ENST00000448424.7:c.2306A>G ENSP00000416738.3:p.Asp769Gly
ENST00000634296.1:c.519A>G
ENST00000634296.2:c.*391A>G ENSP00000489512.2:n.*391A>G
ENST00000634308.1:c.2324A>G ENSP00000489234.1:p.Asp775Gly
ENST00000634620.1:n.3356A>G
ENST00000634810.1:n.1903A>G
ENST00000634844.1:c.2414A>G ENSP00000489398.1:p.Asp805Gly
ENST00000635406.1:n.212-3811A>G
ENST00000673772.1:c.2324A>G ENSP00000501168.1:p.Asp775Gly
ENST00000673864.2:c.*1302A>G ENSP00000501045.2:n.*1302A>G
ENST00000674147.1:c.1628A>G ENSP00000500964.1:p.Asp543Gly
ENST00000674147.2:c.2072A>G ENSP00000500964.2:p.Asp691Gly
XM_005266423.2:c.2462A>G XP_005266480.1:p.Asp821Gly
XM_005266424.3:c.2462A>G XP_005266481.1:p.Asp821Gly
XM_005266424.4:c.2462A>G XP_005266481.1:p.Asp821Gly
XM_005266427.2:c.2324A>G XP_005266484.1:p.Asp775Gly
XM_005266428.1:c.2306A>G XP_005266485.1:p.Asp769Gly
XM_005266430.3:c.2558A>G XP_005266487.1:p.Asp853Gly
XM_005266430.4:c.2558A>G XP_005266487.1:p.Asp853Gly
XM_005266431.2:c.2522A>G XP_005266488.1:p.Asp841Gly
XM_005266431.4:c.2522A>G XP_005266488.1:p.Asp841Gly
XM_005266432.2:c.2072A>G XP_005266489.1:p.Asp691Gly
XM_006719837.2:c.2462A>G XP_006719900.1:p.Asp821Gly
XM_006719837.3:c.2462A>G XP_006719900.1:p.Asp821Gly
XM_006719838.1:c.374A>G XP_006719901.1:p.Asp125Gly
XM_006719839.1:c.374A>G XP_006719902.1:p.Asp125Gly
XM_011535117.1:c.2462A>G XP_011533419.1:p.Asp821Gly
XM_011535117.3:c.2462A>G XP_011533419.1:p.Asp821Gly
XM_011535118.1:c.2558A>G XP_011533420.1:p.Asp853Gly
XM_011535119.1:c.2558A>G XP_011533421.1:p.Asp853Gly
XM_011535120.1:c.2144A>G XP_011533422.1:p.Asp715Gly
XM_011535121.1:c.2558A>G XP_011533423.1:p.Asp853Gly
XM_011535122.1:c.1226A>G XP_011533424.1:p.Asp409Gly
XM_017020627.1:c.2462A>G XP_016876116.1:p.Asp821Gly
XR_941601.1:n.2777A>G
XR_941602.1:n.2777A>G
XR_941603.1:n.2777A>G
XR_941604.1:n.2777A>G